Which syndrome is characterized by the presence of CHD7 mutations?

CHARGE Syndrome is specifically associated with mutations in the CHD7 gene. This condition is a complex genetic disorder that leads to a variety of congenital anomalies including characteristic features such as coloboma, heart defects, atresia of the choanae, growth retardation, genital abnormalities, and ear anomalies. The CHD7 gene plays a crucial role in the development of multiple systems during embryonic growth, and its mutations can disrupt normal cellular function, thereby leading to the symptoms observed in individuals with CHARGE Syndrome.

The other syndromes listed do not have CHD7 mutations as a defining characteristic. For instance, Smith-Lemli-Opitz Syndrome is linked to mutations in the DHCR7 gene, Androgen Insensitivity Syndrome involves mutations in the AR gene responsible for androgen receptor function, and Denys-Drash Syndrome is associated with mutations in the WT1 gene, which is critical in kidney and gonadal development. Each of these syndromes has distinct genetic underpinnings and clinical manifestations, which highlights the specificity of CHD7 mutations to CHARGE Syndrome.